Variant (rsID / SNP)

rs748005072

rs748005072 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CHEK2. Location: chromosome 22, position 29,099,499. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CHEK2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: Deletion
Chromosome / position: 22:29099499
Cytoband: 22q12.1
HGVS: NM_007194.4(CHEK2):c.902del (p.Leu301fs)

Associated conditions / phenotypes

Hereditary cancer-predisposing syndrome|Familial cancer of breast

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.